ANO7[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59158	GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3	LOC129935343, LOC129935344 +1703 more	Copy number gain	See cases	GPathogenic
Select item 154206	GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3	AAMP, ABCA12 +1687 more	Copy number gain	See cases	GPathogenic
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	LOC129935726, LOC129935727 +1665 more	Copy number gain	See cases	GPathogenic
Select item 146683	GRCh38/hg38 2q34-37.3(chr2:210579676-242126245)x3	AAMP, ABCA12 +1148 more	Copy number gain	See cases	GPathogenic
Select item 155149	GRCh38/hg38 2q35-37.3(chr2:218101759-242126245)x3	LOC110120629, LOC110120691 +986 more	Copy number gain	See cases	GPathogenic
Select item 59173	GRCh38/hg38 2q36.3-37.3(chr2:227803148-242086301)x3	LOC129935966, LOC129935967 +630 more	Copy number gain	See cases	GPathogenic
Select item 144756	GRCh38/hg38 2q36.3-37.3(chr2:228723579-241404867)x3	LOC132088828, LOC132088829 +576 more	Copy number gain	See cases	GPathogenic
Select item 161051	GRCh38/hg38 2q37.1-37.3(chr2:231770279-242126245)x1	LOC129935965, LOC129935966 +455 more	Copy number loss	See cases	GPathogenic
Select item 34724	GRCh38/hg38 2q37.1-37.3(chr2:231770279-242126245)x1	ACKR3, AGAP1 +455 more	Copy number loss	See cases	GPathogenic
Select item 58851	GRCh38/hg38 2q37.1-37.3(chr2:233420162-242086301)x1	ACKR3, AGAP1 +361 more	Copy number loss	See cases	GPathogenic
Select item 58852	GRCh38/hg38 2q37.1-37.3(chr2:233453611-242099155)x1	RAB17-DT, RAMP1 +359 more	Copy number loss	See cases	GPathogenic
Select item 154186	GRCh38/hg38 2q37.1-37.3(chr2:234159653-241841232)x1	LOC132090688, LOC132090689 +325 more	Copy number loss	See cases	GPathogenic
Select item 58879	GRCh38/hg38 2q37.1-37.3(chr2:234172536-242086301)x1	LOC126806577, LOC126806578 +334 more	Copy number loss	See cases	GPathogenic
Select item 57457	GRCh38/hg38 2q37.1-37.3(chr2:234345842-242126245)x1	HDAC4, HDAC4-AS1 +334 more	Copy number loss	See cases	GPathogenic
Select item 58880	GRCh38/hg38 2q37.1-37.3(chr2:234668159-242126245)x1	PRLH, PRR21 +325 more	Copy number loss	See cases	GPathogenic
Select item 147967	GRCh38/hg38 2q37.2-37.3(chr2:234835780-242065208)x1	ACKR3, AGAP1 +318 more	Copy number loss	See cases	GPathogenic
Select item 147844	GRCh38/hg38 2q37.2-37.3(chr2:235028429-242066108)x1	ACKR3, AGAP1 +314 more	Copy number loss	See cases	GPathogenic
Select item 59176	GRCh38/hg38 2q37.2-37.3(chr2:235268768-242126245)x3	ACKR3, AGAP1 +311 more	Copy number gain	See cases	GPathogenic
Select item 58882	GRCh38/hg38 2q37.2-37.3(chr2:235268768-242065208)x1	ACKR3, AGAP1 +309 more	Copy number loss	See cases	GPathogenic
Select item 59177	GRCh38/hg38 2q37.2-37.3(chr2:235563664-242086301)x3	ACKR3, AGAP1 +303 more	Copy number gain	See cases	GPathogenic
Select item 147465	GRCh38/hg38 2q37.2-37.3(chr2:235603604-241771051)x1	ACKR3, AGAP1 +288 more	Copy number loss	See cases	GPathogenic
Select item 58883	GRCh38/hg38 2q37.2-37.3(chr2:235741079-242032456)x1	ACKR3, AGAP1 +298 more	Copy number loss	See cases	GPathogenic
Select item 153183	GRCh38/hg38 2q37.2-37.3(chr2:235846916-241841232)x1	ACKR3, AGAP1 +288 more	Copy number loss	See cases	GPathogenic
Select item 151026	GRCh38/hg38 2q37.3(chr2:236413722-242126251)x1	LOC122889015, LOC122889016 +287 more	Copy number loss	See cases	GPathogenic
Select item 57420	GRCh38/hg38 2q37.3(chr2:236555233-242126245)x1	ACKR3, AGXT +276 more	Copy number loss	See cases	GPathogenic
Select item 1684635	Single allele	LOC122889013, LOC122889014 +274 more	Deletion	Chromosome 2q37 deletion syndrome	GPathogenic
Select item 150710	GRCh38/hg38 2q37.3(chr2:236775762-242126251)x1	AGXT, ANKMY1 +274 more	Copy number loss	See cases	GPathogenic
Select item 146261	GRCh38/hg38 2q37.3(chr2:236966763-242065208)x1	AGXT, ANKMY1 +271 more	Copy number loss	See cases	GPathogenic
Select item 146602	GRCh38/hg38 2q37.3(chr2:237034476-242065208)x1	AGXT, ANKMY1 +270 more	Copy number loss	See cases	GPathogenic
Select item 147368	GRCh38/hg38 2q37.3(chr2:237232204-242065208)x1	AGXT, ANKMY1 +264 more	Copy number loss	See cases	GPathogenic
Select item 58885	GRCh38/hg38 2q37.3(chr2:237526184-241996090)x1	LOC129935970, LOC129935971 +251 more	Copy number loss	See cases	GPathogenic
Select item 57432	GRCh38/hg38 2q37.3(chr2:237643996-242126245)x1	COPS9, CROCC2 +250 more	Copy number loss	See cases	GPathogenic
Select item 151032	GRCh38/hg38 2q37.3(chr2:237902870-242126251)x1	AGXT, ANKMY1 +235 more	Copy number loss	See cases	GPathogenic
Select item 144177	GRCh38/hg38 2q37.3(chr2:238756369-241771051)x3	AGXT, ANKMY1 +171 more	Copy number gain	See cases	GPathogenic
Select item 149058	GRCh38/hg38 2q37.3(chr2:238833519-242126245)x1	AGXT, ANKMY1 +185 more	Copy number loss	See cases	GPathogenic
Select item 153228	GRCh38/hg38 2q37.3(chr2:239507342-241841232)x1	LOC129936021, LOC129936022 +144 more	Copy number loss	See cases	GPathogenic
Select item 155356	GRCh38/hg38 2q37.3(chr2:239642965-241841232)x1	LOC110121227, LOC110599582 +143 more	Copy number loss	See cases	GLikely pathogenic
Select item 147508	GRCh38/hg38 2q37.3(chr2:240067206-242126245)x1	AGXT, ANKMY1 +145 more	Copy number loss	See cases	GPathogenic
Select item 58910	GRCh38/hg38 2q37.3(chr2:240067206-242086301)x1	FAM240C, FARP2 +143 more	Copy number loss	See cases	GPathogenic
Select item 146578	GRCh38/hg38 2q37.3(chr2:240171137-242065208)x1	AGXT, ANKMY1 +138 more	Copy number loss	See cases	GPathogenic
Select item 149568	GRCh38/hg38 2q37.3(chr2:240187901-242126245)x1	AGXT, ANKMY1 +140 more	Copy number loss	See cases	GLikely pathogenic
Select item 151964	GRCh38/hg38 2q37.3(chr2:240228628-242126245)x1	AGXT, ANKMY1 +140 more	Copy number loss	See cases	GUncertain significance
Select item 58911	GRCh38/hg38 2q37.3(chr2:240444819-242086301)x1	AGXT, ANKMY1 +131 more	Copy number loss	See cases	GPathogenic
Select item 146232	GRCh38/hg38 2q37.3(chr2:240507151-242065208)x1	AGXT, ANKMY1 +127 more	Copy number loss	See cases	GLikely pathogenic
Select item 152539	GRCh38/hg38 2q37.3(chr2:240671231-242092126)x1	LOC132088835, LOC132088836 +96 more	Copy number loss	See cases	GLikely pathogenic
Select item 59179	GRCh38/hg38 2q37.3(chr2:240712924-241408725)x3	LOC129936008, LOC129936009 +47 more	Copy number gain	See cases	GPathogenic
Select item 3127147	NM_001001666.3(ANO7):c.64G>A (p.Ala22Thr)	ANO7 (A22T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 715796	NM_001370694.2(ANO7):c.-75C>T	ANO7	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 2411607	NM_001370694.2(ANO7):c.-74G>A	ANO7 (R30Q)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 2276524	NM_001370694.2(ANO7):c.-60G>A	ANO7 (A35T)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3127122	NM_001370694.2(ANO7):c.-36G>A	ANO7 (E43K)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 1182034	NM_001370694.2(ANO7):c.-8+235G>A	ANO7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1247216	NM_001370694.2(ANO7):c.-8+266G>A	ANO7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1279620	NM_001370694.2(ANO7):c.-7-206C>T	ANO7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273665	NM_001370694.2(ANO7):c.-7-27A>G	ANO7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1182026	NM_001370694.2(ANO7):c.9G>T (p.Arg3=)	ANO7	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1246662	NM_001370694.2(ANO7):c.37G>A (p.Val13Ile)	ANO7 (V13I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 767880	NM_001370694.2(ANO7):c.75G>C (p.Arg25Ser)	ANO7 (R25S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2210319	NM_001370694.2(ANO7):c.85G>A (p.Gly29Arg)	ANO7 (G83R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 709659	NM_001370694.2(ANO7):c.105G>A (p.Ser35=)	ANO7	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2525197	NM_001370694.2(ANO7):c.106G>A (p.Glu36Lys)	ANO7 (E36K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1264627	NM_001370694.2(ANO7):c.108+183T>G	ANO7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260208	NM_001370694.2(ANO7):c.108+245A>G	ANO7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3127141	NM_001370694.2(ANO7):c.119A>C (p.Gln40Pro)	ANO7 (Q40P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266777	NM_001370694.2(ANO7):c.124G>A (p.Ala42Thr)	ANO7 (A42T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608250	NM_001370694.2(ANO7):c.131C>T (p.Ala44Val)	ANO7 (A44V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305582	NM_001370694.2(ANO7):c.140C>G (p.Ala47Gly)	ANO7 (A47G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127142	NM_001370694.2(ANO7):c.160C>T (p.Arg54Trp)	ANO7 (R54W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456723	NM_001370694.2(ANO7):c.161G>A (p.Arg54Gln)	ANO7 (R108Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1267835	NM_001370694.2(ANO7):c.166+273T>A	ANO7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1229920	NM_001370694.2(ANO7):c.167-261A>G	ANO7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1290506	NM_001370694.2(ANO7):c.167-101A>C	ANO7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3299058	NM_001370694.2(ANO7):c.175G>A (p.Val59Ile)	ANO7 (V59I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127143	NM_001370694.2(ANO7):c.256T>C (p.Trp86Arg)	ANO7 (W85R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344316	NM_001370694.2(ANO7):c.284G>A (p.Arg95His)	ANO7 (R149H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275860	NM_001370694.2(ANO7):c.296T>C (p.Leu99Pro)	ANO7 (L98P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 767881	NM_001370694.2(ANO7):c.306C>A (p.Asp102Glu)	ANO7 (D101E +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1181621	NM_001370694.2(ANO7):c.310-241A>G	ANO7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2241425	NM_001370694.2(ANO7):c.325G>A (p.Gly109Arg)	ANO7 (G163R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127144	NM_001370694.2(ANO7):c.346G>A (p.Ala116Thr)	ANO7 (A116T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468269	NM_001370694.2(ANO7):c.385G>T (p.Ala129Ser)	ANO7 (A183S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127145	NM_001370694.2(ANO7):c.409C>T (p.Pro137Ser)	ANO7 (P137S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1253244	NM_001370694.2(ANO7):c.417+74C>T	ANO7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1296609	NM_001370694.2(ANO7):c.417+214G>A	ANO7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1236639	NM_001370694.2(ANO7):c.418-13C>T	ANO7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2376361	NM_001370694.2(ANO7):c.446C>T (p.Ser149Leu)	ANO7 (S149L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127146	NM_001370694.2(ANO7):c.451G>A (p.Gly151Ser)	ANO7 (G151S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 713296	NM_001370694.2(ANO7):c.486G>T (p.Leu162=)	ANO7	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2209980	NM_001370694.2(ANO7):c.505G>A (p.Val169Ile)	ANO7 (V169I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 780027	NM_001370694.2(ANO7):c.514G>A (p.Glu172Lys)	ANO7 (E172K)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3299044	NM_001370694.2(ANO7):c.530G>A (p.Arg177Gln)	ANO7 (R177Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1220951	NM_001370694.2(ANO7):c.554+213C>A	ANO7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1246779	NM_001370694.2(ANO7):c.554+239C>T	ANO7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1232356	NM_001370694.2(ANO7):c.555-286C>A	ANO7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275340	NM_001370694.2(ANO7):c.555-55_555-18del	ANO7	Deletion (intron variant)	not provided	GBenign
Select item 3299075	NM_001370694.2(ANO7):c.577G>A (p.Asp193Asn)	ANO7 (D193N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535099	NM_001370694.2(ANO7):c.606C>A (p.His202Gln)	ANO7 (H256Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1273466	NM_001370694.2(ANO7):c.612+15C>G	ANO7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264798	NM_001370694.2(ANO7):c.613-297C>T	ANO7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1236659	NM_001370694.2(ANO7):c.613-96C>T	ANO7	Single nucleotide variant (intron variant)	not provided	GBenign

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